Study calls for further research to improve post mortem techniques for stillbirths
14 Dec 2016, 10:11 a.m.
Research led by Diagnostics and Imaging Theme lead, Professor Neil Sebire aimed to investigate which aspects of post-mortem examinations in stillbirths are most effective at providing a cause of death.
Wendy Heywood awarded an MRC UCL confidence in concept award
14 Dec 2016, 10:09 a.m.
GOSH BRC-funded, Senior research associate, Dr Wendy Heywood has been awarded £98,000 from the UCL Confidence in Concept fund to develop newly discovered biomarkers for disease stratification of mucopolysaccharidosis (MPS) into a clinical assay for valida
NHS to offer non-invasive prenatal testing to pregnant women
14 Dec 2016, 10:08 a.m.
A Non-Invasive Prenatal Test (NIPT) evaluated by a team led by BRC-supported Professor Lyn Chitty is to be introduced into the NHS for the screening of Down’s syndrome, Edwards’ syndrome and Patau’s syndrome.
Genetic mutation identified for novel form of severe combined immunodeficiency
14 Dec 2016, 10:03 a.m.
Research led by BRC Deputy Director Professor Bobby Gaspar and supported by the BRC-funded GOSgene facility, has found that a mutation in the linker for activation of T-cells (LAT) gene leads to a specific form of severe combined immunodeficiency (SCID).
Positive interim analysis of Phase 3 studies in spinal muscular atrophy
14 Dec 2016, 10:02 a.m.
Biogen and Ionis Pharmaceuticals announce positive results at interim analysis of two Phase 3 studies both trialling the drug nusinersen in patients with spinal muscular atrophy (SMA).